rs121908872 Rat Genome Database

Variant: rs121908872 - Homo sapiens

RGD ID:

8597131

RS ID:

rs121908872

ClinVar ID:

CV21484

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC101928462 TSHR

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	14	81,610,059
GRCh38	14	81,143,715

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Trait Synonyms
LRG_523t1:c.1657G>A LRG_523:g.193191G>A NG_009206.1:g.193191G>A NC_000014.9:g.81143715G>A More...	04/27/2017	missense\|missense variant	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity	all ages\|neonatal/infancy	HYPERTHYROIDISM, CONGENITAL NONAUTOIMMUNE; Hyperthyroidism, nonautoimmune; HYPERTHYROIDISM, NONAUTOIMMUNE, AUTOSOMAL DOMINANT; HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN; HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE; Hypothyroidism, congenital, nongoitrous, 1; HYPOTHYROIDISM, NONAUTOIMMUNE; none provided; THYROID-STIMULATING HORMONE, RESISTANCE TO; TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT; TSH RESISTANCE

Disease Annotations Click to see Annotation Detail View

Congenital Nongoitrous Hypothyroidism (IAGP)

congenital nongoitrous hypothyroidism 1 (IAGP)

genetic disease (IAGP)

nonautoimmune hyperthyroidism (IAGP)

GWAS Catalog Data

GWAS Catalog Study	Disease Trait	Study Size	Risk Allele	Risk Allele Frequency	P Value	P Value MLOG	SNP Passing QC	Reported Odds Ratio or Beta-coefficient	Ontology Accession	PubMed
GCST010653	Thyroid stimulating hormone levels	119,715 European ancestry individuals	A	6.96812465321051E-4	2E-31	30.69897000433602	Illumina [22400000] (imputed)	1.6294	thyroid stimulating hormone measurement (EFO:0004748)	PMID:32769997

Variant Details

Variant Transcripts

Gene Symbol:	TSHR
Accession:	XM_011537119
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	460

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHYSDCVPCNLYREIRNTRNLTYIDPDALKELPLLKFLGIFNTGLKMFPDLTKVYSTDIFFILEITDNPYMTSIPVNAFQ GLCNETLTLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDKDAFGGVYSGPSLLDVSQTSVTALPSKGLEHLKELI ARNTWTLKKLPLSLSFLHLTRADLSYPSHCCAFKNQKKIRGILESLMCNESSMQSLRQRKSVNALNSPLHQEYEENLGDS IVGYKEKSKFQDTHNNAHYYVFFEEQEDEIIGFGQELKNPQEETLQAFDSHYDYTICGDSEDMVCTPKSDEFNPCEDIMG YKFLRIVVWFVSLLALLGNVFVLLILLTSHYKLNVPRFLMCNLAFADFCMGMYLLLIASVDLYTHSEYYNHAIDWQTGPG CNTAGFFTVFASELSVYTLTVITLERWYAITFAMRLDRKIRLRHACAIMVGGWVCCFLLTLLPLVGISSYAKVSICLPMD TETPLALAYIVFVLTLNIVAFVIVCCCYVKIYITVRNPQYNPGDKDTKIAKRMAVLIFTDFICMAPISFYALSAILNKPL ITVSNSKILLVLFYPLNSCANPFLYAIFTKAFQRDVFILLSKFGICKRQAQAYRGQRVPPKNSTDIQVQKVTHEMRQGLH NMEDVYELIENSHLTPKKQGQISEEYMQTVL*

Gene Symbol:	TSHR
Accession:	NM_000369
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	553

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRPADLLQLVLLLDLPRDLGGMGCSSPPCECHQEEDFRVTCKDIQRIPSLPPSTQTLKLIETHLRTIPSHAFSNLPNISR IYVSIDVTLQQLESHSFYNLSKVTHIEIRNTRNLTYIDPDALKELPLLKFLGIFNTGLKMFPDLTKVYSTDIFFILEITD NPYMTSIPVNAFQGLCNETLTLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDKDAFGGVYSGPSLLDVSQTSVTA LPSKGLEHLKELIARNTWTLKKLPLSLSFLHLTRADLSYPSHCCAFKNQKKIRGILESLMCNESSMQSLRQRKSVNALNS PLHQEYEENLGDSIVGYKEKSKFQDTHNNAHYYVFFEEQEDEIIGFGQELKNPQEETLQAFDSHYDYTICGDSEDMVCTP KSDEFNPCEDIMGYKFLRIVVWFVSLLALLGNVFVLLILLTSHYKLNVPRFLMCNLAFADFCMGMYLLLIASVDLYTHSE YYNHAIDWQTGPGCNTAGFFTVFASELSVYTLTVITLERWYAITFAMRLDRKIRLRHACAIMVGGWVCCFLLTLLPLVGI SSYAKVSICLPMDTETPLALAYIVFVLTLNIVAFVIVCCCYVKIYITVRNPQYNPGDKDTKIAKRMAVLIFTDFICMAPI SFYALSAILNKPLITVSNSKILLVLFYPLNSCANPFLYAIFTKAFQRDVFILLSKFGICKRQAQAYRGQRVPPKNSTDIQ VQKVTHEMRQGLHNMEDVYELIENSHLTPKKQGQISEEYMQTVL*

Gene Symbol:	TSHR
Accession:	NM_001018036
Location:	INTRON

Gene Symbol:	TSHR
Accession:	NM_001142626
Location:	INTRON

Gene Symbol:	LOC101928462
Accession:	XR_007064288
Location:	INTRON;NON-CODING

Gene Symbol:	LOC101928462
Accession:	XR_007064290
Location:	INTRON;NON-CODING

Gene Symbol:	LOC101928462
Accession:	XR_001751022
Location:	INTRON;NON-CODING

Gene Symbol:	LOC101928462
Accession:	XR_007064291
Location:	INTRON;NON-CODING

Gene Symbol:	LOC101928462
Accession:	XR_007064287
Location:	INTRON;NON-CODING

Gene Symbol:	LOC101928462
Accession:	XR_007064286
Location:	INTRON;NON-CODING

Gene Symbol:	LOC101928462
Accession:	XR_007064289
Location:	INTRON;NON-CODING

Gene Symbol:	LOC101928462
Accession:	XR_001751018
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

GWAS Catalog GRCh38

Additional References at PubMed

PMID:9185526	PMID:10560953	PMID:14725684	PMID:19820021	PMID:20718767	PMID:22876533	PMID:25741868	PMID:27255745	PMID:28492532	PMID:29092890

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000006815	CLINVAR
	RCV000314691	CLINVAR
	RCV002512853	CLINVAR
	RCV003764533	CLINVAR
	RCV003924806	CLINVAR
dbSNP (RS)	rs121908872	CLINVAR
GWAS Catalog	GCST010653	GWAS Catalog
MedGen	C0950123	CLINVAR
	C1836706	CLINVAR
	C3493776	CLINVAR
	C3661900	CLINVAR
NCBI Gene	TSHR	CLINVAR
OMIM	275200	CLINVAR
	603372	CLINVAR
	609152	CLINVAR
OMIM Allele	603372.0016	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: rs121908872 - Homo sapiens

Imported Disease Annotations - ClinVar